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Test Code OXNP Oxysterols, Plasma

Useful For

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens

 

Monitoring of individuals with Niemann-Pick type C disease

 

This test is not useful for the identification of carriers.

Reporting Name

Oxysterols, P

Specimen Type

Plasma


Ordering Guidance


This test is also available as a part of a panel; see HSMP / Hepatosplenomegaly Panel, Plasma. If this test (OXNP) is ordered with either GPSYP / Glucopsychosine, Plasma or CTXP / Cerebrotendinous Xanthomatosis, Plasma, the individual tests will be canceled and HSMP ordered.



Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin or lithium heparin), yellow top (ACD B)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.3 mL

Collection Instructions:

1. Centrifuge at 4° C.

2. Aliquot plasma into plastic vial. Do not disturb the buffy coat layer.

3. Send frozen.


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen 65 days

Reference Values

CHOLESTANE-3-BETA, 5-ALPHA, 6-BETA-TRIOL

Cutoff: ≤0.070 nmol/mL

 

7-KETOCHOLESTEROL

Cutoff: ≤0.100 nmol/mL

 

LYSO SPHINGOMYELIN

Cutoff :≤ 0.100 nmol/mL

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OXNP Oxysterols, P 92740-0

 

Result ID Test Result Name Result LOINC Value
36433 Interpretation (OXNP) 59462-2
36430 Cholestane-3beta,5alpha,6beta-triol 92755-8
36431 7-Ketocholesterol 92764-0
36432 Lyso-sphingomyelin 92747-5
36434 Reviewed By 18771-6

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Testing Algorithm

For more information see Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency

 

If the patient has abnormal newborn screening results for Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)